Baby Steps

"When I heard cystic fibrosis, I just lost it because all I thought was, 'My God, my daughter's going to die when she's just a child,'" said Kristie Sieracki, a mother of three from Edgewood.

But now the Sierackis consider themselves lucky for two reasons. First, the prognosis for cystic fibrosis patients has improved in recent years, with life expectancy now reaching into the 50s for infants diagnosed at birth.

Second, Korinna was born in Maryland, one of about 40 states that routinely screens newborns for cystic fibrosis. Tests showed the couple's two older children don't have the disorder.

Each state decides what screenings to conduct on newborns, and the result is a patchwork of inconsistent requirements.

Maryland requires a more thorough screening than many states - ranking at the top with four other jurisdictions in a national newborn screening "report card" issued by the March of Dimes last summer.

Critics say some other states are moving too slowly, and as a result, too many babies are leaving hospitals with undiagnosed disorders that require early treatment.

"There are certainly tests that aren't being done that should be done in a lot of places," said Jill Levy-Fisch, a mother of three from Scarsdale, N.Y., and president of a group that promotes supplemental screening programs.

States have required genetic screening of newborns since the mid-1960s, when researchers developed a blood test to detect phenylketonuria, or PKU, an enzyme abnormality that can cause mental retardation, potentially lethal blood clots and liver failure.

Dozens of additional screening tests have been developed. In many cases, detection and treatment before symptoms appear can prevent or reduce the effects of lifelong and life-threatening complications, experts say.

However, the March of Dimes found that a third of the 4 million babies born in the U.S. each year are screened inadequately. The group's annual report card identifies states that don't screen for the 29 disorders recommended in 2005 by the American College of Medical Genetics.

Eight states - Arkansas, Kansas, Montana, New Mexico, Oklahoma, Pennsylvania, Texas and West Virginia - require fewer than 10 tests, according to the March of Dimes last year. This year's report card is due out July 11.

As many as 20,000 children are diagnosed with one of the 29 disorders each year, according to the group, whose goal is to have every U.S.-born infant screened for all 29 conditions by the end of 2008.

The problem is that many of the disorders are extremely rare and little understood. So states are playing catch-up because methods of detecting and treating the conditions are still evolving, experts say.

"The technology is changing every day," said Dr. R. Rodney Howell, president of the American College of Medical Genetics Foundation and a pediatrics professor at the University of Miami medical school.

Howell conceded that the patchwork of state screening requirements needs to be addressed. When his granddaughter was born in a Virginia hospital two years ago, he sent a blood sample to a private lab for supplemental screening because Virginia's wasn't thorough enough.

"It is something parents need to be aware of. You really need to know about the importance of the screening to have it done," he said.

The American Medical Association supports uniform screening, but declined to pass a resolution calling for nationwide tests "for all known genetic and congenital diseases" at its annual conference in Chicago this past weekend. The language was considered too broad, an AMA spokeswoman said.

Search for diagnosis

Levy-Fisch said she would have welcomed the AMA's resolution. When her youngest son, Matthew, was a year old, he stopped gaining weight and stayed at 22 pounds for the next 18 months, until she brought him to Children's Hospital in Philadelphia, where they put him on a feeding tube.

Matthew was eventually diagnosed with SCAD, a metabolic disorder that makes it hard to digest short chain fatty acids, which can cause a buildup of toxins in the blood.

Now age 6, he takes Carnitor and riboflavin and his height and weight are in the normal range, his mother says. But he has learning disabilities and if he gets a common illness such as a stomach virus, it means a hospital stay to monitor his glucose level, she said.

New York has started to screen newborns for SCAD - as has Maryland. But the fact that a dozen states still don't screen for it frustrates Levy-Fisch. Other parents and children shouldn't have to go through her son's ordeal, she said.

"It's one of the most difficult things to go through in life, knowing there's something wrong with your child and going from place to place and not getting an answer as to what it is," she said. She is president of the Save Babies Through Screening Foundation, whose Web site offers to pay for supplemental screening for indigent parents (savebabies.org).

Jana Monaco of Woodbridge, Va., also knows from experience the importance of adequate screening. Her daughter has a rare metabolic disorder but is in good health because she was diagnosed at birth; her older son, diagnosed with the same disorder at 3 1/2 , is severely disabled.

"We're the classic case for newborn screening," said Monaco.

When her son, Stephen, was born nine years ago, the state of Virginia screened for only eight diseases; his disease, known as isovaleric acidemia, wasn't one of them.

The ailment leaves the body unable to rid itself of acids in the digestive process, a condition that produces toxins after a high protein meal. After a particularly heavy meal six years ago, Stephen began vomiting, lost all his energy, slipped into a coma and had to be put on a ventilator.

He remains brain-damaged, must use a wheelchair and needs support to hold up his head.

"Stephen was robbed of the normal life he was meant to lead," Monaco said.

When Stephen's sister, Caroline, was born four years ago, she was given immediate treatment, with nutritional supplements and a protein-restricted diet, and is now healthy. The couple's two older boys do not have the disorder.

Virginia updated its screening requirements in 2005 - after lobbying from Monaco - and now requires screening for isovaleric acidemia.

Supplemental screening for isovaleric acidemia was available from private firms when Stephen was born. But no one told Monaco about the disorder or the test - even though it was routinely conducted on newborns born in neighboring North Carolina at the time.

"That's been hard to swallow," she said.

Monaco has spoken about the issue before church and pediatric health groups near her home, and she serves on a federal genetic disorders advisory panel.

"There are still too many people who don't know what these screenings are all about," she said.

Maryland testing

The 75,000 babies born in Maryland each year are screened for all 29 core disorders and 25 secondary conditions recommended two years ago by the American College of Medical Genetics, said Dr. Susan Panny, who heads the state health department's office for genetics and children with special health care needs.

Disorders tested for in Maryland include not only cystic fibrosis, but SCAD and isovaleric acidemia, she said.

A state Department of Health and Mental Hygiene advisory panel comprising four doctors, five consumers and two legislators decides which disorders to include in the screening process.

In Maryland, newborns are screened either by state labs or by Pediatrix, an Orlando, Fla.-based company with contracts to process samples collected at 10 hospitals in the Washington suburbs and the Eastern Shore.

Maryland babies are screened twice: once in the hospital after 24 hours of feeding and again at the pediatrician's office when the baby is 1 to 4 weeks old.

The second screening finds metabolic disorders that can only be identified when chemical indicators have had a few days to build up, Panny said.

Parents are charged $42, with the fee usually appearing on their hospital bills.

If the screening turns up a disorder, state officials contact the pediatrician, Panny said. If the condition is life-threatening, doctors are notified immediately.

A positive result is never conclusive proof that an infant has a disorder. Infants are always retested, and frequently, the initial positive result is a false alarm.

The American College panel initially reviewed 84 detectable conditions, said Howell, the University of Miami pediatrician who was the report's lead author. But the group narrowed the list to 29 disorders that were both detectable and treatable, Howell said.

The report also recommended screening for 25 rare "secondary" disorders for which treatments have yet to be established.

Researchers at the Johns Hopkins School of Medicine are working with state health officials to develop a screening test for ALD, the genetic disease depicted in the movie Lorenzo's Oil, and other groups are working on a test for SCID, an immune deficiency also known as the "bubble boy" disease.

There are "4.1 million babies being born and tested in this country each year, so it's a big deal," Howell said.

An article about genetic screening of newborns in Thursday's editions of The Sun incorrectly identified the location of research into a screening test for adrenoleukodystrophy, or ALD. The work is being done at the Kennedy Krieger Institute in Baltimore.The Sun regrets the error.

An article about genetic screening of newborns in Thursday's editions of The Sun incorrectly identified the location of research into a screening test for adrenoleukodystrophy, or ALD. The work is being done at the Kennedy Krieger Institute in Baltimore.The Sun regrets the error.